In:
European Journal of Medical Research, Springer Science and Business Media LLC, Vol. 23, No. 1 ( 2018-12)
Abstract:
Choanal (CA) and gastrointestinal atresias (GA) are an important feature of syndromic congenital sodium diarrhea (sCSD), a disorder recently associated with mutations in the gene for serine protease inhibitor type 2 ( SPINT2 ). It is, however, not known whether isolated non-syndromic CA and GA themselves might result from SPINT2 mutations. Methods We performed a prospective cohort study to investigate 19 CA and/or GA patients without diarrhea (“non-sCSD”) for potential sCSD characteristic clinical features and SPINT2 mutations. Results We found a heterozygous SPINT2 splice mutation (c.593-1G 〉 A), previously demonstrated in sCSD in homozygous form, in only 1 of the 19 patients of the “non-sCSD” cohort. This patient presented with isolated anal atresia and borderline low laboratory parameters of sodium balance. In the remaining 18 non-sCSD CA/GA patients investigated, SPINT2 sequence analysis and clinical markers of sodium homeostasis were normal. None of the 188 healthy controls tested in a regional Tyrolean population harbored the c.593-1G 〉 A mutation, which is also not listed in the ExAc and gnomAD databases. Conclusions The finding of only one heterozygous SPINT2 mutation in 19 patients with isolated CA/GA was not statistically significant. Therefore, SPINT2 mutations are an unlikely cause of non-sCSD atresia. Trial registration ISRCTN73824458. Retrospectively registered 28 September 2014
Type of Medium:
Online Resource
ISSN:
2047-783X
DOI:
10.1186/s40001-018-0312-2
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2018
detail.hit.zdb_id:
2129989-4
